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Autosomal dominant diseases

Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and Bioinformatics Analysis

Bernd Timmermann, Martin Kerick, [ ... ], Michal R. Schweiger

Glioblastoma Subclasses Can Be Defined by Activity among Signal Transduction Pathways and Associated Genomic Alterations

Cameron Brennan, Hiroyuki Momota, [ ... ], Eric Holland

Neurofibromatosis Type 1 and the “Elephant Man's” Disease: The Confusion Persists: An Ethnographic Study

Claire-Marie Legendre, Catherine Charpentier-Côté, Régen Drouin, Chantal Bouffard

A Locked Nucleic Acid Antisense Oligonucleotide (LNA) Silences PCSK9 and Enhances LDLR Expression In Vitro and In Vivo

Nidhi Gupta, Niels Fisker, [ ... ], Ellen Marie Straarup

Oxytocin and Vasopressin Are Dysregulated in Williams Syndrome, a Genetic Disorder Affecting Social Behavior

Li Dai, C. Sue Carter, [ ... ], Julie R. Korenberg

The Ubiquitin-Proteasome Reporter GFPu Does Not Accumulate in Neurons of the R6/2 Transgenic Mouse Model of Huntington's Disease

John S. Bett, Casey Cook, Leonard Petrucelli, Gillian P. Bates

Utilization of Murine Colonoscopy for Orthotopic Implantation of Colorectal Cancer

Ehud Zigmond, Zamir Halpern, [ ... ], Chen Varol

Proteasome Activator Enhances Survival of Huntington's Disease Neuronal Model Cells

Hyemyung Seo, Kai-Christian Sonntag, [ ... ], Ole Isacson

RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression

Adam Labadorf, Andrew G. Hoss, [ ... ], Richard H. Myers

A Novel Multiplex Cell Viability Assay for High-Throughput RNAi Screening

Daniel F. Gilbert, Gerrit Erdmann, [ ... ], Michael Boutros

The FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression

Céline Vanderplanck, Eugénie Ansseau, [ ... ], Alexandra Belayew

A Monoclonal Antibody TrkB Receptor Agonist as a Potential Therapeutic for Huntington’s Disease

Daniel Todd, Ian Gowers, [ ... ], Jonathan A. Bard

Brain-Derived Neurotrophic Factor in Patients with Huntington's Disease

Chiara Zuccato, Manuela Marullo, [ ... ], Elena Cattaneo

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